September 03, 2013

ISABS 2013 abstracts

MITOCHONDRIAL
DNA AND PHYLOGENETIC ANALYSIS OF PREHISTORIC NORTH AFRICAN POPULATIONS

North Africa is
located at a crossroad between Europe, Africa and Asia and has been inhabited
since the Prehistoric time. In the Epipaleolithic period (23.000 years to
10.000 years BP), the Western North Africa has been occupied by Mecha- Afalou
Men, authors of the Iberomaurusian industry. The origin of the Iberomaurusians
is unresolved, several hypotheses have been forwarded. With the aim to
contribute to a better knowledge of the Iberomaurusian settlement we analysed
the mitochondrial DNA (mtDNA) of skeletons exhumed from the prehistoric site of
Taforalt in Morocco (23.000-10.800 years BP) and Afalou in Algeria (11.000 to
15.000 BP -Algeria). Hypervariable segment 1 of mtDNA from 38 individuals were
amplified by Real-Time PCR and directly sequenced. Sequences were aligned with
the reference sequence to perform the mtDNA classification within haplogroups.
Phylogenetic analysis based on mitochondrial sequences from Mediterranean
populations was performed using Neighbor-Joining algorithm implemented in MEGA
program. mtDNA sequences from Afalou and Taforalt were classified in Eurasiatic
and North African haplogroups. We noted the absence of Sub-Saharan haplotypes.
Phylogenetic tree clustered Taforalt with European populations. Our results
excluded the hypothesis of the sub-Saharan origin of Iberomaurusians
populations and highlighted the genetic flow between Northern and Southern cost
of Mediterranean since Epipaleolithic period.

DISCONTINUITY SCREENING OF THE EARLY FARMERS’ MT-DNA LINEAGES IN THE CARPATHIAN BASIN

Discontinuous mitochondrial (mt) haplotype data between Central-Europe’s first farmers and contemporary Europeans have been described before. Hungary was a key-area of the Neolithisation, in the route of Neolithisation following the River Danube, and that was also the birthplace of the Linear Pottery Culture, which later colonised Western and Northern Europe. Neolithic and post-Neolithic human remains as well as contemporary population of Hungary is involved in our project to gain information on their mt-haplotype pattern and especially on the frequency of Asian haplotypes in the Carpathian Basin. HVS-I sequences from nt15977 to nt16430 of Neolithic specimens with sufficient mtDNA preservation among an extended Neolithic collection were analysed for polymorphisms, identifying 23 different ones. A novel, N9a, N1a, C5, D1/G1a, M/R24 haplogroups were determined among the pre-industrial Hungarians. The presence of Asian haplotypes in the ancient populations must be taken into consideration when reconstructing the population history of Europe and Asia, so a survey of the recent Asian haplotype frequency in Europe is unavoidable. The ancient and recent haplotype pattern of Hungary is definitely worth further investigation to test a theory on the continuous population history of Europe, wheter genetic gaps between ancient and recent human populations of Europe were more likely to be detected.

ANTHROPOLOGIC AND MITOCHONDRIAL DNA ANALYSIS OF A MEDIEVAL GRAVEYARD FROM SOPOT (CROATIA)

The North African population gene pool based on mitochondrial DNA (mtDNA) polymorphisms has been shaped by the back-migration of several Eurasian lineages in Paleolithic and Neolithic times. Recent influences from sub-Saharan Africa and Mediterranean Europe are also evident. The presence of East-West and North- South haplogroup frequency gradients strongly reinforces the genetic complexity of this region. However, this genetic scenario is beset with a notable gap, which is the lack of consistent information for Algeria, the largest country in the continent. To fill this gap, we analyzed a sample of 240 unrelated subjects from a northwest Algeria cosmopolitan population. mtDNA sequences analysis was performed on the regulatory hypervariable segment I region (HVSI). Haplogroup diagnostic mutations were analyzed using PCR-RFLPs and/or SNaPshot multiplex reactions. Of all North African populations, Eurasian lineages are the most frequent in Algeria (80%) while sub-Saharan Africa origin accounts for the remaining (20%). Within them, the North African genetic component U6 and M1 count for 20%. Indeed, the U6 haplogroup, highly distributed in Northwestern African populations, show a high frequency in Algeria (11.83%), while, the M1 frequency (7.1%) raises an anomalous peak in its decreasing Northeast - Northwest gradient. Moreover, the high frequency of HV subgroups (38.33%) point to direct maritime contacts between the European and North African western sides of the Mediterranean. Besides, the most common western H subgroups, H1 (47.8%) and H3 (10.1%), represent 60% of H lineages. These frequencies and HV0 (7.5%) lie well within the observed Northwestern to Northeastern African decreasing gradients.

MATERNAL
GENETIC VARIATION OF THE SLOVENIAN POPULATION IN A BROADER EUROPEAN CONTEXT AND
COMPARED TO ITS PATERNAL COUNTERPART

Slovenia
is a European country situated at the crossroads of main European cultural and
trade routes. It is geographically more linked to Central Europe, but history draws
it closer together to its ex-Yugoslavian, Southeast European (SEE) neighbors.
Slovenian maternal heritage has not been analyzed since 2003 and our aim was to
analyze SNP markers of 97 Slovenian mtDNAs in high resolution to see where this
population fits according to its maternal genetic variation. We compared the
Slovenian sample with the neighboring SEE populations, as well as with other
published European population datasets. Also, we compared the obtained mtDNA
variation results with the available Slovenian Y chromosome data to see how
these two uniparental marker systems correspond to each other. In the PC plot
based on mtDNA haplogroups frequencies, Slovenian population has an outlying position
mostly due to the increased prevalence of J (14.4%) and T (15.4%) clade and
especially because of the abundance and diversity of J1c samples in Slovenia,
represented with 8 haplotypes and in a percentage of >11%. Although in an
outlying position, Slovenian mtDNA variation still shows a certain degree of affinity
to SEE. On the contrary, Slovenia’s paternal genetic heritage yielded results that
correspond to the population’s geographic location and groups Slovenian population
considerably closer to Central European countries, based on increased prevalence
of Northern/Central European R1a-M198 and decreased frequency of Balkan-specific
I2a2-M423. Such differences in maternal and paternal marker systems could
indicate that Slovenian genetic variation was influenced by sex-biased demographic
events.

AN ASIAN
TRACE IN THE GENETIC HERITAGE OF THE EASTERN ADRIATIC ISLAND OF HVAR

The Island of Hvar is situated in the
central eastern Adriatic, and its relatively small rural population has been
reproductively isolated thought history. Therefore, founder effects, genetic
drift and inbreeding have had significant role in the shaping of current
genetic diversity of Hvar Islanders. We analyzed Y-chromosome SNP markers of
412 Hvar islanders in high resolution, with the aim to investigate the current
paternal genetic diversity. We found a relatively high frequency (6.1%) of unrelated
male samples belonging to the Q*-M424 haplogroup, which is unusual for European
populations. Interestingly, a previous study showed 9 individuals from Hvar
with mitochondrial haplogroup F, which is almost absent in Europe. Both
findings could indicate a certain connection with Asian populations, where these
haplogroups are most common. This might be a result of several migratory events
in the history, one of which could be linked to the ancient Silk Road, the other
a consequence of the arrival of the Slavs, following the Avars, to the eastern Adriatic
in the 6th century or due to the expansion of the Ottoman Empire in 16th to
18th century. The presence of these rare mitochondrial and Y-chromosome lineages
are an example of founder effect and random genetic drift which, in this small
island with a high degree of isolation and endogamy, had a strong impact on
shaping the genetic diversity of the population.

GENETIC
PORTRAIT OF THE BESERMYAN ETHNIC GROUP BASED ON MTDNA HAPLOGROUP STUDY

Besermyan are a small ethnic
group living in the Volga-Ural region of Russia. They belong to Finno-Ugric
language group, but speak a special dialect. There are some Bulgar-Chuvash
borrowings in their adverb vocabulary that are absent in other dialects of the
Udmurt language. Besermyan live in the northwestern part of modern Udmurtia in
the Cheptsa basin. In 2002 their number was about three thousand. The Besermyan
origin is a very interesting issue. There is a view that the endonym Besermyan
(beserman) is derived from the Turkic word which means flMuslim« in Arabic.
This hypothesis, along with their language, hints at the origin of this ethnic
group; however the genetic portrait of Besermyan has not been described yet. In
our study we used the data of mitochondrial DNA (mtDNA) HVSI sequencing from 98
Besermyans representing 10 villages in Udmurtia Republic of Russia. The
prevalence of Western Eurasian mtDNA lineages (91.7%) over Eastern Eurasian
ones (9.2%) was shown in the studied population which is consistent with the
structure of mtDNA pool of Finno-Ugric ethnic groups of the Volga-Ural region.
Some Eastern Eurasian lineages in Besermyan are represented by haplogroups D4b,
A4b and Z1a which are also common in Udmurts. It is important to note though
that the share of Western Eurasian component in Udmurts according to previous
study by Bermisheva et al. (2002) is about 74.5% so mtDNA haplogroup distribution
in Besermyans is closer to other Finno-Ugric people of the Volga-Ural region:
Mordvins and Maris.

Tajikistan is a country in the mountains of southeast Central Asia. Due to its isolation, mtDNA variation in the Tajiks has been fragmentary studied on a limited number of samples. In 1997 saliva samples were collected from unrelated Tajiks across Tajikistan. After long-term preservation DNA was extracted from 2 mm FTA discs. Due to degradation mtDNA was amplified using the primary and secondary PCRs with nested primers in the multiplex format. The origin of 91 mitochondrial genomes from Tajikistan traced from western Eurasia (62.6%), eastern Eurasia (25.3%), south Asia (11.0%), and North Africa (1.1%). Significant population structure in the distribution of these mtDNA lineages was revealed within the regional groups in Tajikistan. The mtDNA variation was compared between the Tajiks and 45 populations of Eurasia. Pairwise Fst comparisons and the correspondence analysis revealed non-significant differences between the Tajik and Uzbek populations. Although both nations speak languages belonging to different linguistic groups, this result corresponds to their cultural and economic proximity. Surprisingly, after the Uzbeks, the Tajik mtDNA pool most closely resembles to the Ossetians, an Indo-Iranian people from the North Caucasus. The Tajiks also display intensive gene flow and admixture with some other populations of Central Asia and the Iranian Plateau living along the centers and crossroads of the earliest civilizations and belonging to different linguistic groups including the Uyghur, Kazakh, Karakalpak, Turkmen, Pathans, Iranian Arabs, and Gilaki. This study demonstrates an impact of ancient nomad migrations and invasions on the distribution of mtDNA variation in Eurasia.

11 comments:

I agree. Folks that are interested in haplogroups and their migrations are familiar with the Y-dna groups, unlike MT-dna [migrations and age] which is much more complex. To my knowledge ISOGG does not have an equivalent table of MT-dna markers.

Y haplogroups tend to be very unstable in population groups. Some popular/powerful fellow arrives and suddenly the next couple of few generations are dominated by a new group. Just look at Genghis and Niall. So far as I am aware North Africa is currently dominated by E1 anyhow. Ancient Y-DNA might be more useful (Tut was fascinating).

itochondrial information is much more informative in my opinion. And 80% "European" haplogroups specifically H1 and H3 in Algeria is not the effect of a couple of slave girls captured by pirates. I would love to see the details of the sublineages in comparison with European lineages.

I have long suspected that H was the paleolithic haplogroup of SW Europe, and North Africa seems to be genetically part of Europe.

Y haplogroups tend to be very unstable in population groups. Some popular/powerful fellow arrives and suddenly the next couple of few generations are dominated by a new group. Just look at Genghis and Niall. So far as I am aware North Africa is currently dominated by E3 anyhow. Ancient Y-DNA might be more useful (Tut was fascinating).

Mitochondrial information is much more informative in my opinion. And 80% "European" haplogroups specifically H1 and H3 in Algeria is not the effect of a couple of slave girls captured by pirates. I would love to see the details of the sublineages in comparison with European lineages.

I have long suspected that H was the paleolithic haplogroup of SW Europe, and North Africa seems to be genetically part of Europe.

"Every Anatolian site that was important during the preceding Late Bronze Age shows a destruction layer, and it appears that here civilization did not recover to the level of the Indo-European Hittites for another thousand years. Hattusas, the Hittite capital, was burned - probably by Kaskians, possibly aided by the Phrygians - abandoned, and never reoccupied. Karaoğlan was burned and the corpses left unburied. The Hittite Empire was destroyed by the Indo-European speaking Phrygians and by the Semitic speaking Assyrians. The Trojan city of Troy was destroyed at least twice, before being abandoned until Roman times."

I mentioned bronze age collapse several times before and you just ignored it then.

There is a map showing that r1b is what the hittites and many other anatolians were. That form of r1b is not around so much.

Italics are also another r1b people. They have a big center right in lydia where they claim to come from. That's the one I was looking for but you can look it up yourself if you don't dismiss everything I say without even a glance, like usual.

Anyway it's no shame to not be "original" anatolian. The current residents down't seem to even be the main players in the series of wars that depopulated it, and they fought back and forth many times.

So to me the conclusion is that these guys were thrown back out of anatolia but didn't really migrate huge distances, more like everyone got pushed a little west and so did the next guy, and so on and so on. Most of the descriptions I see of this time are totally ridiculous and imply all of europe got overrun by a tiny minority from outside. But looking at mtdna that doesn't seem to be the case.

"I have long suspected that H was the paleolithic haplogroup of SW Europe, and North Africa seems to be genetically part of Europe." I agree and encourage further studies such as the top that may show what I have mentioned before - that gene flow into Europe most likely came across the Med along both coasts and aDNA remnants would be found in North Africa. As this study found, "Our results excluded the hypothesis of the sub-Saharan origin of Iberomaurusians populations and highlighted the genetic flow between Northern and Southern co(a)st of Mediterranean since Epipaleolithic period."

It is as easy, if not easier, to migrate along the littoral of North Africa, with fewer indentations than up and around Greece and Italy, to get to Iberia. And Gibraltar is an easy hop from Cueta. It simply makes sense and can explain some of the R1b in groups that had little admixture with European colonials.

"It is as easy, if not easier, to migrate along the littoral of North Africa, with fewer indentations than up and around Greece and Italy, to get to Iberia. And Gibraltar is an easy hop from Cueta. It simply makes sense and can explain some of the R1b in groups that had little admixture with European colonials".

We noted the absence of Sub-Saharan haplotypes. Phylogenetic tree clustered Taforalt with European populations.

This was said in the article and is very important. The Taforalt cave is from 20,00bc. Of course it shows Caucasins where deep in North Africa by this time which u can know by looking at modern North African mtDNA and their unique groups like U6 that are around 50,000 years old. and the skull shapes of the remains.

But according to Ancient North AFrican DNAhttp://www.ancestraljourneys.org/nafricaadna.shtml

Two mtDNA V samples are in Moorco from 10,000bc. mtDNA V is directley connected with the spread of mtDNA H1, H3,, V, and U5b1 out of Iberia in Europe after the last glacial mzximum ended 19,000ybp. And even before this there was tons of evdience it also spread to North Africa.

here are some examples showing a very ancient Iberian source for H1 in North Africahttp://www.plosone.org/article/info:doi/10.1371/journal.pone.0013378

Also evidence for H1,H3,V, and U5b1 being spread out of Iberia in Europe starting about 19,000ybphttp://www.ncbi.nlm.nih.gov/pubmed/22560092

I wish they would show haplogroups it seems they like to people mysterious talk smart and boring. I am pretty sure their talking about H1 the most popular H subclade in Europe. The others from 10,00bc in Morooco all the ones that were for sure a certain haplogroup were H.

I wonder if this is the source of the pale skinned Kablye and Riffen Berbers of North Africa. I know someone who went there and they are known as really the pale skinned people and if ur white they will think ur a Kablye. Also blonde hair is 18% in some Kablye groups and red hair also exists. They are as berber as ber can be though very traditional and one fo the biggest berber ethnic groups around 5 million.

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